Article

The PS4-Likelihood Ratio Calculator: Flexible allocation of evidence weighting for case-control data in variant classification

2024-04-12

Abstract excerpt

<h4>Background</h4> Within the 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework, case-control observations can only be scored dichotomously as ‘strong’ evidence (PS4) towards pathogenicity or ‘nil’. <h4>Methods</h4> We developed the PS4-likelihood ratio calculator (PS4-LRCalc) for quantitative evidence assignment based on the observed varian...

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Literature Corpus work: 5fe26780-4d94-587a-a483-8ddfc8ae5346
DOI: 10.1101/2024.04.09.24305536

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